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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 395 - 398 (4page)
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Long QT syndrome (LQTS) is a genetically heterogeneous disorder associated with se- quence variations in more than 10 genes; in some cases, it is caused by large deletions or duplications among the main, known LQTS-associated genes. Here, we describe a 14-month-old Korean boy with congenital hearing loss and prolonged QT interval whose condition was clinically diagnosed as Jervell and Lange-Nielsen syndrome (JLNS), a re- cessive form of LQTS. Genetic analyses using sequence analysis and multiplex ligation- dependent probe amplification (MLPA) assay revealed a large deletion spanning exons 7-10 as well as a frameshift mutation (c.1893dup; p.Arg632Glnfs*20). To our knowledge, this is the first report of a large deletion in KCNQ1 identified in JLNS patients. This case indicates that a method such as MLPA, which can identify large deletions or duplications needs to be considered in addition to sequence analysis to diagnose JLNS.
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참고문헌 (21)
참고문헌 신청
Barc J / 2011 / Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance / J Am Coll Cardiol 57 : 40 ~ 47
Eddy CA / 2008 / Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome / Heart Rhythm 5 : 1275 ~ 1281
Giudicessi JR / 2013 / Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity / Circ Cardiovasc Genet 6 :
Goldenberg I / 2006 / Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome / J Cardiovasc Electrophysiol 17 : 1161 ~ 1168
Kaltenbach S / 2013 / Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene / Clin Genet 84 :
Eddy CA / 2008 / Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome / Heart Rhythm 5 : 1275 ~ 1281
Giudicessi JR / 2013 / Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity / Circ Cardiovasc Genet 6 :
Goldenberg I / 2006 / Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome / J Cardiovasc Electrophysiol 17 : 1161 ~ 1168
Kaltenbach S / 2013 / Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene / Clin Genet 84 :
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